title: Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance.
abstract: The RecQ helicases are guardians of the genome. Members of this conserved family of proteins have a key role in protecting and stabilizing the genome against deleterious changes. Deficiencies in RecQ helicases can lead to high levels of genomic instability and, in humans, to premature aging and increased susceptibility to cancer. Their diverse roles in DNA metabolism, which include a role in telomere maintenance, reflect interactions with multiple cellular proteins, some of which are multifunctional and also have very diverse functions. The results of in vitro cellular and biochemical studies have been complimented by recent in vivo studies using genetically modified mouse strains. Together, these approaches are helping to unravel the mechanism(s) of action and biological functions of the RecQ helicases.
authors.affiliation: Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA. vbohr@nih.gov
authors.forename: Vilhelm A
authors.initials: VA
authors.lastname: Bohr
mesh_terms: D019588:Aging, Premature / Q000235:genetics; D000818:Animals; D001816:Bloom Syndrome / Q000235:genetics; D053903:DNA Breaks, Double-Stranded; D004260:DNA Repair / Q000502:physiology; D004261:DNA Replication / Q000502:physiology; D004195:Disease Models, Animal; D005090:Exodeoxyribonucleases / Q000502:physiology; D015894:Genome, Human; D006801:Humans; D051379:Mice; D011499:Protein Processing, Post-Translational; D053484:RecQ Helicases / Q000502:physiology*; D011995:Recombination, Genetic; D011038:Rothmund-Thomson Syndrome / Q000235:genetics; D016615:Telomere / Q000502:physiology; D014158:Transcription, Genetic / Q000502:physiology; D014898:Werner Syndrome / Q000235:genetics; D000071657:Werner Syndrome Helicase
chemical_list: C506732:RECQL5 protein, human; D005090:Exodeoxyribonucleases; C097151:Bloom syndrome protein; C506731:RECQL4 protein, human; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase